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[Congenital muscular dystrophy]

G Serratrice, D Cros, J F Pellissier

    Revue Neurologique
    |January 1, 1980
    PubMed
    Summary
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    Congenital muscular dystrophy (CMD) presents variably, often with hypotonia and muscle retractions. Current diagnostic approaches may not fully capture the diverse mechanisms underlying CMD.

    Area of Science:

    • Neurology
    • Genetics
    • Pediatrics

    Background:

    • Congenital muscular dystrophy (CMD) encompasses a group of inherited neuromuscular disorders.
    • Characterized by muscle weakness and hypotonia present at birth or within the first few months of life.

    Observation:

    • Report details four patients with CMD exhibiting diverse clinical presentations.
    • Symptoms ranged from severe congenital hypotonia and arthrogryposis in infants to adult-onset disease following neonatal hypotonia or congenital torticollis.
    • Progressive muscle retractions and absent reflexes were noted in most patients, with moderately elevated creatine phosphokinase (CPK) levels.

    Findings:

    • Electromyography showed myopathic abnormalities, sometimes with pseudo-neurogenic signs.
    • Muscle biopsies revealed non-specific changes like fibrosis and fat involution, with minimal fiber necrosis.

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  • Histoenzymology and morphometry confirmed the lack of specific pathological markers, showing case-to-case variability.

    • Implications:

    • A review of 92 cases indicates a variable disease course, with a 15% mortality rate.
    • Progressive muscle retractions are a hallmark of CMD.
    • The current classification of CMD may be insufficient, potentially masking distinct underlying mechanisms not detectable by current diagnostic methods.